IthaID: 4062
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | 285 kb deletion | HGVS Name: | N/A |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: Large deletion of about 285 kb in size, extending from the WASH4P gene (telomeric region) in 5’ to a part of the AXIN1 gene in 3’. Removes the entire WASH4P gene, the α-globin gene cluster, and exons 5 to 10 of the AXIN1 gene. Found together with the -α3.7 deletion in trans in a proband with Hb H disease. The proband presented with scoliosis, likely a consequence of the genetic defect in AXIN1. The deletion associated with an α0-thalassemia phenotype and not the ATR-16 syndrome. Mother was heterozygous for the deletion.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia |
| Allele Phenotype: | α0 |
| Associated Phenotypes: | N/A |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | French/Algerian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | Yes |
In silico pathogenicity prediction
Note:
The impact thresholds provided in this section are based on the analyses performed in Tamana et.al. For any given tool, the impact thresholds defined for the set of variants with the same effect on function as the variant examined, are preferred over those defined for the full dataset.
Sequence Viewer
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Publications / Origin
- Joly P, Lacan P, Labalme A, Bonhomme E, Sanlaville D, Francina A, A novel telomeric (approximately 285 kb) α-thalassemia deletion leading to a phenotypically unusual HbH disease., Haematologica, 95(5), 850-1, 2010 PubMed
Created on 2023-07-06 11:47:35,
Last reviewed on (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2023-07-06 11:47:35 | The IthaGenes Curation Team | Created |
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IthaGenes was last updated on 2024-04-24 11:43:02